SHOX2

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Short stature homeobox 2
Identifiers
Symbols SHOX2 ; OG12; OG12X; SHOT
External IDs OMIM602504 MGI1201673 HomoloGene68535 GeneCards: SHOX2 Gene
Orthologs
Species Human Mouse
Entrez 6474 20429
Ensembl ENSG00000168779 ENSMUSG00000027833
UniProt O60902 P70390
RefSeq (mRNA) NM_001163678 NM_013665
RefSeq (protein) NP_001157150 NP_038693
Location (UCSC) Chr 3:
157.82 – 157.82 Mb
Chr 3:
66.97 – 66.98 Mb
PubMed search [1] [2]

Short stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.[1][2][3]

Function[edit]

SHOX2 is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA-binding domain. Homeobox proteins have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species.[1]

Clinical significance[edit]

Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange Syndrome.[1]

SHOX2 localises on chromosome 3, so it is an autosomal and not a pseudoautosomal homeobox (SHOX, which localises on the PAR1 region of chromosome X and Y, has a pseudoautosomal hereditability).

References[edit]

  1. ^ a b c "Entrez Gene: short stature homeobox 2". 
  2. ^ Blaschke RJ, Monaghan AP, Schiller S, Schechinger B, Rao E, Padilla-Nash H, Ried T, Rappold GA (March 1998). "SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development". Proc. Natl. Acad. Sci. U.S.A. 95 (5): 2406–11. doi:10.1073/pnas.95.5.2406. PMC 19357. PMID 9482898. 
  3. ^ Semina EV, Reiter RS, Murray JC (March 1998). "A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse". Hum. Mol. Genet. 7 (3): 415–22. doi:10.1093/hmg/7.3.415. PMID 9466998. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.